Severe learning disabilities with limited use of language, poor vocabulary and repetitive speech, epilepsy. Challenging, agitated behaviour marked by shouting, hand-clapping, kicking, hitting and throwing objects at people, although this has improved with age

Phenotypically normal father carries duplication

14.7–14.75

16.3–16.77

9

Moderate developmental delay, behavioural problems (increased impulsivity, limited attention span). Large simple ears, thick lips, large tongue, large puffy hands and small nails. Also has an expansion of the FRAXA triplet repeat